ClinVar Miner

Submissions for variant NM_138691.2(TMC1):c.884+2dup (rs876658020)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000213908 SCV000272508 uncertain significance not specified 2015-11-12 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The c.884+2_884 +3insT variant in TMC1 has not been previously reported in individuals with hear ing loss. This variant was absent from large population studies, though the abil ity of these studies to accurately detect indels may be limited. This variant is located in the 5' splice region. Computational tools suggest an impact to splic ing. However, this information is not predictive enough to determine pathogenici ty. In summary, while there is some suspicion for a pathogenic role, the clinica l significance of the c.884+2_884+3insT variant is uncertain.

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